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(HPO:0001250) | Seizures | rare [HPO:skoehler] | 1245 / 7739 | |||
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(HPO:0001263) | Global developmental delay | rare [HPO:skoehler] | 853 / 7739 | |||
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(HPO:0001744) | Splenomegaly | 7/7 [HPO:probinson] | 16582076 | IBIS | 337 / 7739 | |
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(HPO:0001873) | Thrombocytopenia | 6/7 [HPO:probinson] | 16582076 | IBIS | 224 / 7739 | |
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(HPO:0001875) | Neutropenia | 5/7 [HPO:probinson] | 16582076 | IBIS | 83 / 7739 | |
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(HPO:0001903) | Anemia | 7/7 [HPO:probinson] | 16582076 | IBIS | 289 / 7739 | |
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(HPO:0001945) | Fever | 16582076 | IBIS | 218 / 7739 | ||
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(HPO:0002155) | Hypertriglyceridemia | 5/5 [HPO:probinson] | 16582076 | IBIS | 67 / 7739 | |
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(HPO:0002240) | Hepatomegaly | 7/7 [HPO:probinson] | 16582076 | IBIS | 467 / 7739 | |
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(HPO:0003281) | Increased serum ferritin | 3/4 [HPO:probinson] | 16582076 | IBIS | 32 / 7739 | |
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(HPO:0011900) | Hypofibrinogenemia | 3/5 [HPO:probinson] | 16582076 | IBIS | 8 / 7739 | |
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(HPO:0012156) | Hemophagocytosis | 6/7 [HPO:probinson] | 16582076 | IBIS | 9 / 7739 | |
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | rare [HPO:skoehler] | 990 / 7739 |